SHOX2和RASSF1A基因甲基化在非小细胞肺癌小活检样本临床病理诊断中的应用价值  

Application value of SHOX2 and RASSF1A gene methylation in clinicopathological diagnosis of small biopsy samples of non-small cell lung cancer

作　　者：张彤 王晓伟 吴俊秀 于芳 钟定荣 ZHANG Tong;WANG Xiao-wei;WU Jun-xiu;YU Fang;ZHONG Ding-rong(Department of Pathology,China-Japan Friendship Hospital,Chinese Academy of Medical Sciences&Graduate School of Peking Union Medical Collegey Beijing 100029,China)

机构地区：[1]中国医学科学院北京协和医学院研究生院中日友好医院病理科,北京100029

出　　处：《诊断病理学杂志》2022年第5期389-394,共6页Chinese Journal of Diagnostic Pathology

摘　　要：目的 肺部小活检石蜡样本经常因为病变细胞量少、形态学不典型无法明确诊断。本研究旨在探索SHOX2和RASSF1A基因甲基化联合检测在肺部小活检石蜡样本中的辅助诊断价值。方法 收集样本共58例,包含45例非小细胞肺癌、13例良性肺疾病。其中肺癌组分三类样本:小活检石蜡样本(TBLB、肺穿刺、TBB、EBUS、胸腔积液石蜡包埋)、配对手术肿瘤样本及配对肿瘤周围正常肺组织。对照组13例均为良性肺部疾病,包括小活检石蜡样本及配对手术样本。采用PCR法检测样本中SHOX2和RASSF1A基因甲基化情况。结果 双基因甲基化联合检测可提高肺癌的检出率、减少漏诊率。小活检病理形态学怀疑肿瘤且诊断证据不足时,双基因联合检测可提高诊断率达44.4%(12/27)。双基因联合检测敏感性为84.4%,特异性为100.0%。结论 SHOX2和RASSF1A基因甲基化联合检测可以提高非小细胞肺癌患者小活检样本中肿瘤的检出率,特别是在小活检病理形态学难以给出明确诊断时,其可为病理诊断提供一种新的检测手段和辅助依据。Objective Small lung biopsy paraffin sample often cannot be diagnosed because of the small amount of cells and atypical morphology. This study was to explore the diagnostic value of SHOX2 and RASSF1A gene methylation combined detection in small lung paraffin biopsy samples. Methods A total of 58 samples were collected, including 45 cases of non-small cell lung cancer and 13 cases of benign lung diseases. The study group was divided into three types of samples: small biopsy paraffin sample(TBLB, lung puncture, TBB, EBUS, and paraffin-embedded cell block), tumor surgical samples, and normal lung around tumor. 13 cases in the control group were benign lung diseases, including small biopsy paraffin samples and matched surgical samples. The methylation of SHOX2 and RASSF1A genes was detected by PCR. Results The detection rate of lung cancer and missed diagnosis rate were reduced by the combination of the double gene methylation detection. When the tumor was suspected by small biopsy but the diagnostic evidence was insufficient, the combined detection of two genes could improve the diagnostic rate by 44.4%(12/27). Combined detection of two genes(sensitivity was 84.4%;specificity was 100.0%). Conclusion The combined detection of SHOX2 and RASSF1A gene methylation can improve the detection rate of tumor in small biopsy samples of non-small cell lung cancer patients, especially when it is difficult to give a clear diagnosis of small biopsy pathology;it can provide a new detection method and auxiliary basis for pathological diagnosis.

关 键 词：SHOX2基因 RASSF1A基因 甲基化 非小细胞肺癌 

分 类 号：R734.2[医药卫生—肿瘤]